The UMD-FBN1 mutations database
Leu to Phe mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3332 GER03HAN F0117 I0002 Female Heterozygous GERMANY NA 275 3331 GER03HAN F0117 I0001 Male Heterozygous GERMANY NA 275
p.Leu1421Phe	c.4261C>T	34	1421	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 530 KOR01SEO F0003 I01 Male Heterozygous S. KOREA NA 100